日本語
 
Help Privacy Policy ポリシー/免責事項
  詳細検索ブラウズ

アイテム詳細


公開

学術論文

The whole-genome landscape of medulloblastoma subtypes

MPS-Authors
/persons/resource/persons50625

Warnatz,  H. J.
Gene Regulation and Systems Biology of Cancer (Marie-Laure Yaspo), Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society;

/persons/resource/persons50066

Amstislavskiy,  V.
Gene Regulation and Systems Biology of Cancer (Marie-Laure Yaspo), Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society;

/persons/resource/persons50655

Yaspo,  M. L.
Gene Regulation and Systems Biology of Cancer (Marie-Laure Yaspo), Independent Junior Research Groups (OWL), Max Planck Institute for Molecular Genetics, Max Planck Society;

External Resource

https://www.ncbi.nlm.nih.gov/pubmed/28726821
(全文テキスト(全般))

Fulltext (restricted access)
There are currently no full texts shared for your IP range.
フルテキスト (公開)

Northcott.pdf
(出版社版), 10MB

付随資料 (公開)
There is no public supplementary material available
引用

Northcott, P. A., Buchhalter, I., Morrissy, A. S., Hovestadt, V., Weischenfeldt, J., Ehrenberger, T., Gröbner, S., Segura-Wang, M., Zichner, T., Rudneva, V. A., Warnatz, H. J., Sidiropoulos, N., Phillips, A. H., Schumacher, S., Kleinheinz, K., Waszak, S. M., Erkek, S., Jones, D. T. W., Worst, B. C., Kool, M., Zapatka, M., Jager, N., Chavez, L., Hutter, B., Bieg, M., Paramasivam, N., Heinold, M., Gu, Z., Ishaque, N., Jager-Schmidt, C., Imbusch, C. D., Jugold, A., Hubschmann, D., Risch, T., Amstislavskiy, V., Gonzalez, F. G. R., Weber, U. D., Wolf, S., Robinson, G. W., Zhou, X., Wu, G., Finkelstein, D., Liu, Y., Cavalli, F. M. G., Luu, B., Ramaswamy, V., Wu, X., Koster, J., Ryzhova, M., Cho, Y. J., Pomeroy, S. L., Herold-Mende, C., Schuhmann, M., Ebinger, M., Liau, L. M., Mora, J., McLendon, R. E., Jabado, N., Kumabe, T., Chuah, E., Ma, Y., Moore, R. A., Mungall, A. J., Mungall, K. L., Thiessen, N., Tse, K., Wong, T., Jones, S. J. M., Witt, O., Milde, T., Von Deimling, A., Capper, D., Korshunov, A., Yaspo, M. L., Kriwacki, R., Gajjar, A., Zhang, J., Beroukhim, R., Fraenkel, E., Korbel, J. O., Brors, B., Schlesner, M., Eils, R., Marra, M. A., Pfister, S. M., Taylor, M. D., & Lichter, P. (2017). The whole-genome landscape of medulloblastoma subtypes. Nature, 547(7663), 311-317. doi:10.1038/nature22973.


引用: https://hdl.handle.net/21.11116/0000-0000-BC42-2
要旨
Current therapies for medulloblastoma, a highly malignant childhood brain tumour, impose debilitating effects on the developing child, and highlight the need for molecularly targeted treatments with reduced toxicity. Previous studies have been unable to identify the full spectrum of driver genes and molecular processes that operate in medulloblastoma subgroups. Here we analyse the somatic landscape across 491 sequenced medulloblastoma samples and the molecular heterogeneity among 1,256 epigenetically analysed cases, and identify subgroup-specific driver alterations that include previously undiscovered actionable targets. Driver mutations were confidently assigned to most patients belonging to Group 3 and Group 4 medulloblastoma subgroups, greatly enhancing previous knowledge. New molecular subtypes were differentially enriched for specific driver events, including hotspot in-frame insertions that target KBTBD4 and 'enhancer hijacking' events that activate PRDM6. Thus, the application of integrative genomics to an extensive cohort of clinical samples derived from a single childhood cancer entity revealed a series of cancer genes and biologically relevant subtype diversity that represent attractive therapeutic targets for the treatment of patients with medulloblastoma.